Mixed Connective Tissue Disease (MCTD)

A syndrome with overlapping clinical features of systemic lupus erythematosus, scleroderma, polymyositis, and Raynaud's phenomenon. The disease is differentially characterized by high serum titers of antibodies to ribonuclease-sensitive extractable (saline soluble) nuclear antigen and a "speckled" epidermal nuclear staining pattern on direct immunofluorescence.

Also Known As:

Networked: 786 relevant articles (22 outcomes, 41 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Mixed Connective Tissue Disease (MCTD)
2.	Interstitial Lung Diseases (Interstitial Lung Disease)
3.	Systemic Lupus Erythematosus (Libman-Sacks Disease)
4.	Systemic Scleroderma (Systemic Sclerosis)
5.	Glomerulonephritis

Experts

1.	Bodolay, Edit: 12 articles (10/2014 - 02/2002)
2.	Szegedi, Gyula: 11 articles (10/2014 - 02/2002)
3.	Bodolay, E: 7 articles (09/2014 - 09/2003)
4.	Ihn, H: 7 articles (07/2005 - 02/2000)
5.	Zeher, Margit: 6 articles (05/2011 - 11/2005)
6.	Hoffman, Robert W: 6 articles (09/2008 - 03/2002)
7.	Yazawa, N: 6 articles (07/2005 - 09/2001)
8.	Tamaki, K: 6 articles (07/2005 - 09/2001)
9.	Gunnarsson, Ragnar: 5 articles (01/2016 - 06/2011)
10.	Mimori, Tsuneyo: 5 articles (02/2015 - 11/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Mixed Connective Tissue Disease:

1.	Adrenal Cortex Hormones (Corticosteroids)IBA 01/01/1999 - "Initial observations of MCTD suggested infrequent renal disease, a good response to corticosteroids and favourable prognosis. " 01/01/1999 - "The course was also chronic and rather benign, as in MCTD, and all cases responded to low or moderate doses of corticosteroids. " 01/01/1996 - "Pulmonary involvement in mixed connective tissue disease has been considered to be relatively benign and easily treated with corticosteroids. " 10/01/1992 - "It seems clear that the original description of MCTD as a mild disorder, rarely affecting the lungs or kidneys and requiring small doses of corticosteroids only, is no longer tenable. " 10/01/1991 - "The prognosis of MCTD is good, it is of prime importance to avoid overdosage of corticosteroids, since drug treatment is often not needed."
2.	AntibodiesIBA 01/01/1995 - "The detection of the anti ENA antibodies was specially helpful in diagnosing patients with systemic lupus erythematosis presenting with atypical features and with mixed connective tissue disease." 12/01/1992 - "This study suggests that antibodies against the p67 RNP are markers for clinical features of MCTD even in the context of SLE." 01/01/2016 - "Anti-Ro52 antibodies were present in 29%, anti-Ro60 in 19% and anti-SSB in 6% of the MCTD sera. " 06/01/2009 - "High to moderate titres of anti-beta(2)-GPI as well as APS were rare in MCTD, and these antibodies may be correlated with the development of PAH in these patients." 06/01/2009 - "Medium to high titres of aCL and anti-beta(2)-GPI antibodies were found in sera from four (10.2%) MCTD patients. "
3.	Antineutrophil Cytoplasmic Antibodies (ANCA)IBA 01/01/2011 - "Mixed connective tissue disease developing into MPO-ANCA-positive polyangiitis." 01/01/2006 - "Mixed connective tissue disease associated with MPO-ANCA-positive polyangiitis." 08/01/2000 - "We believe this is the first case in which MPO-ANCA-related nGN was demonstrated in a patient with MCTD." 08/01/2000 - "Here we report a case which developed MPO-ANCA-related nGN 16 years after the diagnosis of MCTD. " 08/01/2013 - "Sustained remission of nephrotic proteinuria with preserved renal function may follow treatment of ANCA-mediated disease developing in patients with MCTD. "
4.	Prednisolone (Predate)FDA LinkGeneric 10/01/2012 - "PLGE associated with both MCTD and SjS was diagnosed, but she was successfully treated by prednisolone." 01/01/2012 - "A 69-year-old woman, who had been diagnosed as having Sjögren's syndrome at 37 years old and mixed connective tissue disease at 42 years old, was under treatment with oral prednisolone. " 01/01/2011 - "In 2003, a 64-year-old woman was diagnosed with mixed connective tissue disease and treated with oral prednisolone (30 mg/day). " 01/01/2006 - "The patient was a 42-year-old woman diagnosed as having MCTD and Sjögren's syndrome in 1989, and who was taking oral prednisolone. " 11/01/2001 - "Continuing prednisolone may be useful in pregnant women, and aggressive treatment to prevent mixed connective tissue disease exacerbation may be appropriate during pregnancy."
5.	Cyclophosphamide (Cytoxan)FDA LinkGeneric 03/01/1984 - "More commonly, however, MCTD patients with long-term disabling disease, including pulmonary dysfunction, have had significant improvement with steroid and/or cyclophosphamide treatment, and clinical remission has occurred in 38% of the patients in this series." 02/01/2007 - "The 20 MCTD patients with PAH received cyclophosphamide therapy for 1 year beside the pulse corticosteroid (CS) therapy. " 07/01/2006 - "PAH associated with SLE or MCTD might respond to a treatment combining glucocorticosteroids and cyclophosphamide." 12/01/1998 - "[A case of protein-losing gastroenteropathy in association with mixed connective tissue disease which was successfully treated with cyclophosphamide pulse therapy]." 04/01/2001 - "A case of mixed connective tissue disease with cystic pancreatitis: successful treatment by cyclophosphamide."
6.	Cyclosporine (Ciclosporin)FDA LinkGeneric 06/01/2000 - "Patients who had received cyclosporin for SLE, mixed connective tissue disease, and other overlap syndromes were identified. " 01/01/1999 - "Low-dose cyclosporin for multiple colonic ulcers associated with mixed connective tissue disease." 12/01/2002 - "Abstract To determine the efficacy of cyclosporin A (CysA) for the treatment of steroid-resistant interstitial pneumonitis (IP), we enrolled 25 patients with various rheumatic diseases and steroid-resistant IP in a pilot study [4 patients with rheumatoid arthritis (RA), 2 with systemic lupus erythematosus (SLE), 11 with polymyositis/dermatomyositis (PM/DM), 4 with systemic sclerosis (SSc), 1 with mixed connective tissue disease (MCTD), 3 with Sjögren syndrome (SS)]. " 05/01/2003 - "The addition of vincristine in one patient and vincristine and cyclosporine in the second (with mixed connective tissue disease) led to complete remission. " 01/01/2014 - "Multiple methods for case finding were used to ensure complete ascertainment: (a) patients with problem SLE, undifferentiated autoimmune disease or mixed connective tissue disease in the Computer-based Patient Record System, (b) patients with positive antinuclear antibody test, anti-Sm antibodies and/or anti-dsDNA antibodies in the laboratory database and (c) patients who consumed hydroxichloroquine, chloroquine, azathioprine, cyclophosphamide, mycophenolate, cyclosporine or rituximab, from the administrative HIMCP drugs database. "
7.	AutoantibodiesIBA 01/01/2016 - "Ro52 and Ro60) and anti-SSB autoantibodies as markers for disease outcomes in MCTD. " 09/01/2014 - "Five years after the diagnosis of MCTD high concentrations of anticardiolipin (anti-CL) and anti-β2-glycoprotein (anti-β2GPI) autoantibodies were present in the patient's serum without thrombotic events. " 06/15/2011 - "We investigated the esophageal lesions in MCTD histopathologically, and analyzed relationships between these lesions and autoantibodies extracted from the serum of MCTD patients. " 08/01/2005 - "Autoantibodies in the pathogenesis of mixed connective tissue disease." 01/01/2005 - "Autoantibodies specific for apoptotic U1-70K are superior serological markers for mixed connective tissue disease."
8.	bosentan (Tracleer)FDA Link 03/01/2008 - "Severe liver dysfunction due to bosentan in a patient with mixed connective tissue disease." 10/01/2007 - "Twelve patients with PAH related to systemic sclerosis (8 cases), SLE (2 cases), mixed connective tissue disease (1 case) and polymyositis (1 case) attending the Rheumatology Unit of Padova University were treated with bosentan for two years. " 06/01/2010 - "This study aimed to investigate the efficacy of bosentan in the treatment of severe pulmonary hypertension in a young female patient with mixed connective tissue disease (MCTD) associated with antiphospholipid syndrome. " 05/01/2009 - "Fifteen patients with PAH associated with CTD [systemic sclerosis (SSc) 13, mixed connective tissue disease (MCTD) 2] were treated with bosentan for 40-96 weeks, and changes of exercise capacity (6-min walk distance and Borg's dyspnea scale), cardio-pulmonary hemodynamics (right ventricular pressure, specific activity scale and cardiac index), Raynaud's phenomenon, digital ulcers and dermal sclerosis were observed. " 06/01/2010 - "Efficacy of bosentan in the treatment of a patient with mixed connective tissue disease complicated by pulmonary arterial hypertension."
9.	Small Nuclear Ribonucleoproteins (snRNP)IBA 06/15/2008 - "In the present study, we characterized U1-70-kDa small nuclear ribonucleoprotein (70-kDa) autoantigen-specific T cells in a new murine model of MCTD. " 02/01/2006 - "A murine model of mixed connective tissue disease induced with U1 small nuclear RNP autoantigen." 12/01/1993 - "These results demonstrate that snRNP-reactive T cells can be isolated from SLE and MCTD patients in vitro, and that Ag-driven expansion of such T cells could play a role in the immunopathogenesis of these diseases in vivo." 12/01/1992 - "Thus the longitudinal analysis of the correlation between anti-snRNP antibody specificities and clinical manifestations support the concept of MCTD as a distinct entity." 08/01/1986 - "The use of immunoblotting and immunoprecipitation of (U) small nuclear ribonucleoproteins in the analysis of sera of patients with mixed connective tissue disease and systemic lupus erythematosus. "
10.	DNA (Deoxyribonucleic Acid)IBA 07/01/2002 - "High mutation rate in the NS1 gene of parvovirus B19 DNA amplified from skeletal muscle of a case of mixed connective tissue disease." 12/01/1991 - "Herein we report that selected sera from patients with systemic lupus erythematosus (SLE) and MCTD are reactive with a 28-30 kD protein on immunoblots of peripheral blood mononuclear cells (PBMC) cell membrane preparations; the reactivity is abolished by prior incubation of the blot with DNA. " 06/01/1989 - "Expression of anti-double stranded DNA idiotype in mixed connective tissue disease and progressive systemic sclerosis." 01/01/2004 - "Employing the dot blot hybridisation, we observed that 90.9% of mixed connective tissue disease (MCTD) (n = 22) patients exhibited the presence of human immunodeficiency virus type 1 (HIV-1) conserved pol sequence in DNA isolated from serum. " 06/01/1989 - "The occurrence of anti-double stranded(ds) DNA idiotype 2C10 was studied in patients with mixed connective tissue disease (MCTD) and progressive systemic sclerosis (PSS). "

Therapies and Procedures

1.	Ketogenic Diet 11/01/2015 - "In conclusion, the data show antiepileptic properties associated with ketogenic diets and provide evidence for the efficacy of the MCTD used in this study as a therapeutic option for epilepsy treatment. " 11/01/2008 - "The medium-chain triglyceride diet (MCTD) is a variant of the classic 4:1 ketogenic diet (KD) introduced in 1971 by Huttenlocher as an attempt to improve the palatability of the KD by allowing more carbohydrates yet preserving ketosis. "
2.	Drug Therapy (Chemotherapy) 07/01/2004 - "Two patients had systemic chemotherapy (1 metastatic colon cancer and 1 mixed connective tissue disease). " 08/01/1992 - "Temporary remission of scleroderma during the successful treatment of an associated malignant lymphoma by chemotherapy is reported in a patient with systemic sclerosis and mixed connective tissue disease. " 06/01/1996 - "Two patients with nasopharyngeal carcinoma complicated by collagen diseases (dermatomyositis in one, and Sjögren's syndrome with mixed connective tissue disease in the other) were given radiotherapy combined with chemotherapy consisting of cis-platinum and 5-fluorouracil. "
3.	Thyroidectomy 01/01/1991 - "Clinical and biological improvement of mixed connective tissue disease after total thyroidectomy]." 01/01/2015 - "We theorize that: 1) MCTD may have been a primary diagnosis complicated by PTC, or 2) MCTD may have been an initial presentation of paraneoplastic syndrome of silent PTC, because her symptoms of MCTD significantly improved after total thyroidectomy. "
4.	Aftercare (After-Treatment) 05/01/1990 - "Studies in 10 patients before and after treatment suggested that esophageal dysfunction in mixed connective tissue disease may be responsive to corticosteroids. " 01/01/2012 - "Epstein-Barr virus-negative, CD5-positive diffuse large B-cell lymphoma developing after treatment with oral tacrolimus for mixed connective tissue disease : a case report and review of the literature."
5.	Plasmapheresis 09/01/2014 - "In the case of MCTD with coexisting APS combination therapy, including plasmapheresis has beneficial effects." 12/01/2000 - "Mixed connective tissue disease with multiple organ damage: successful treatment with plasmapheresis." 06/01/1987 - "Acute scleroderma in stable mixed connective tissue disease: treatment by plasmapheresis." 09/01/2014 - "The beneficial effect of plasmapheresis in mixed connective tissue disease with coexisting antiphospholipid syndrome." 12/01/1980 - "Plasmapheresis has been performed in eleven cases with connective tissue diseases, three with systemic lupus erythematosus, three with mixed connective tissue disease and five with rheumatoid arthritis. "